24 results on '"Delatycki, Martin B."'
Search Results
2. Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia
3. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective
4. Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition
5. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
6. Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants
7. Probing the multifactorial source of hand dysfunction in Friedreich ataxia
8. Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial
9. Expanding the phenotypic spectrum associated with mutations of DYNC1H1
10. Gastrocnemius and soleus spasticity and muscle length in Friedreich’s ataxia
11. Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy
12. Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement
13. Cystic Fibrosis Carrier Screening
14. Epigenetic modifications in trinucleotide repeat diseases
15. Understanding the Costs of Care for Cystic Fibrosis: An Analysis by Age and Health State
16. Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al
17. Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature
18. Voice in Friedreich Ataxia
19. Molecular analysis of the PArkin co-regulated gene and association with male infertility
20. Analysis of PArkin Co-Regulated Gene in a Taiwanese–Ethnic Chinese cohort with early-onset Parkinson's disease
21. An autosomal dominant form of non-cirrhotic portal hypertension
22. Retrospective Study of the Effects of Inpatient Rehabilitation on Improving and Maintaining Functional Independence in People With Friedreich Ataxia
23. Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population
24. Reduced mortality due to phlebotomy in moderately iron-loaded HFE haemochromatosis? The need for clinical trials
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